SEQUEIRA, Angele; SAGARDOY, Thomas; BOURGEADE, Laetitia; LACOMBE, Didier; SARRAZIN, Elizabeth; TOUTAIN, Annick; ROORYCK, Caroline

doi:10.1038/s41431-025-01837-6

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SEQUEIRA, Angele
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]

SAGARDOY, Thomas
Université de Bordeaux [UB]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]

BOURGEADE, Laetitia
Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]

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European Journal of Human Genetics. 2025-05-01, vol. 33, n° 5, p. 683-687

Résumé en anglais

Molecular bases of the clinically heterogenous Oculo-Auriculo-Vertebral Spectrum or Craniofacial Microsomia remain largely unknown. Although genetic diagnosis is established in less than 10% of the patients, variants in the FOXI3 gene are the most recurrent genetic cause. We studied a large family with 6 affected individuals on 4 generations showing an autosomal dominant transmission of Oculo-Auriculo-Vertebral Spectrum with incomplete penetrance. The genome sequencing strategy allowed the identification of a new likely pathogenic missense variant located within the Nuclear Localization Signal of FOXI3 and affecting its subcellular localization. Moreover, we described 3 additional rare FOXI3 variants identified in 3 other patients from a cohort of 251 patients with Oculo-Auriculo-Vertebral Spectrum. These variants were classified as Variants of Unknown Significance. In conclusion, this study confirms FOXI3 implication in the Oculo-Auriculo-Vertebral Spectrum and the importance of Nuclear Localization Signal integrity. Genotype-phenotype correlations and putative modifier haplotype are discussed.< Réduire

Mots clés en anglais

Humans

Male

Female

Goldenhar Syndrome

Pedigree

Mutation

Missense

Adult

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Novel variants in FOXI3 gene confirm its implication in Oculo-Auriculo-Vertebral spectrum.

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